Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies

Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies

Abstract Background Pathogenic missense variants in the dystrophin (DMD) gene are rarely reported in dystrophinopathies. Most DMD missense variants are of uncertain significance and their pathogenicity interpretation remains complicated. We aimed to investigate whether DMD missense variants would ca...

Full description

Bibliographic Details
Main Authors:	Zhiying Xie, Chang Liu, Haiyan Yu, Zhihao Xie, Chengyue Sun, Ying Zhu, Xiaoyu Hu, Li Bai, Luhua Wei, Peng Sun, Yanyu Lu, Yunlong Lu, Yawen Zhao, Wei Zhang, Zhaoxia Wang, Lingchao Meng, Yun Yuan
Format:	Article
Language:	English
Published:	BMC 2024-03-01
Series:	Orphanet Journal of Rare Diseases
Subjects:	Dystrophinopathies DMD Missense variants Aberrant splicing
Online Access:	https://doi.org/10.1186/s13023-024-03128-7

Similar Items

A novel deep intronic variant introduce dystrophin pseudoexon in Becker muscular dystrophy: A case report
by: Chang Liu, et al.
Published: (2024-03-01)

DMD deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosis
by: Fernanda Fortunato, et al.
Published: (2024-01-01)

Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy
by: Cinthya J. Zepeda‐Mendoza, et al.
Published: (2022-07-01)

Exonization of a deep intronic long interspersed nuclear element in Becker muscular dystrophy
by: Zhiying Xie, et al.
Published: (2022-08-01)

Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (<i>DMD</i>)
by: Ana Gonçalves, et al.
Published: (2021-12-01)

Splicing Characteristics of Dystrophin Pseudoexons and Identification of a Novel Pathogenic Intronic Variant in the <i>DMD</i> Gene
by: Zhiying Xie, et al.
Published: (2020-10-01)

Reclassification of <i>DMD</i> Duplications as Benign: Recommendations for Cautious Interpretation of Variants Identified in Prenatal Screening
by: Wenbin He, et al.
Published: (2022-10-01)

First Identification of Rare Exonic and Deep Intronic Splice-Altering Variants in Patients With Beta-Sarcoglycanopathy
by: Zhiying Xie, et al.
Published: (2022-06-01)

Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia
by: Joel A. Morales‐Rosado, et al.
Published: (2020-09-01)

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype
by: Brioschi Simona, et al.
Published: (2012-08-01)

A Genotype-Phenotype Correlation Study of Exon Skip-Equivalent In-Frame Deletions and Exon Skip-Amenable Out-of-Frame Deletions across the <i>DMD</i> Gene to Simulate the Effects of Exon-Skipping Therapies: A Meta-Analysis
by: Saeed Anwar, et al.
Published: (2021-01-01)

The identification of a novel splicing mutation in the DMD gene of a Chinese family
by: Wanlu Liu, et al.
Published: (2021-12-01)

Theragnosis for Duchenne Muscular Dystrophy
by: Leonela Luce, et al.
Published: (2021-06-01)

Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing
by: Arun Shastry, et al.
Published: (2021-05-01)

Prime editing strategies to mediate exon skipping in DMD gene
by: Cedric Happi Mbakam, et al.
Published: (2023-05-01)

A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families
by: Malene Djursby, et al.
Published: (2020-04-01)

X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine <i>DMD</i> Gene
by: Barbara Brunetti, et al.
Published: (2020-10-01)

A novel splicing mutation identified in a DMD patient: a case report
by: Yuting Wen, et al.
Published: (2023-11-01)

Clinical phenotype and genotype analysis on a family of Becker muscular dystrophy caused by a novel missense mutation of DMD gene
by: Yun-qing GAO, et al.
Published: (2019-05-01)

Phenotypic features of genetically modified DMD-XKOXWT pigs
by: Kazutoshi Okamoto, et al.
Published: (2023-12-01)

Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies
by: Liang Wang, et al.
Published: (2019-02-01)

Early myocardial damage assessment in dystrophinopathies using 99Tcm-MIBI gated myocardial perfusion imaging
by: Zhang L, et al.
Published: (2015-12-01)

Dystrophic Cardiomyopathy: Complex Pathobiological Processes to Generate Clinical Phenotype
by: Takeshi Tsuda, et al.
Published: (2017-09-01)

TRPC3, but not TRPC1, as a good therapeutic target for standalone or complementary treatment of DMD
by: Anna Creisméas, et al.
Published: (2021-12-01)

A novel missense ALMS1 variant causes aberrant splicing identified in a cohort of patients with Alström syndrome
by: Jie Shi, et al.
Published: (2023-01-01)

A female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD family
by: Ming-Xia Sun, et al.
Published: (2024-02-01)

Association Between Loss of Dp140 and Cognitive Impairment in Duchenne and Becker Dystrophies
by: Chamova T, et al.
Published: (2013-06-01)

Expression profile analysis to predict potential biomarkers for glaucoma: BMP1, DMD and GEM
by: Dao wei Zhang, et al.
Published: (2020-09-01)

BMP antagonists enhance myogenic differentiation and ameliorate the dystrophic phenotype in a DMD mouse model
by: SongTing Shi, et al.
Published: (2011-02-01)

Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing
by: Syed Ashraf Uddin, et al.
Published: (2020-09-01)

Inhibition of PKCθ Improves Dystrophic Heart Phenotype and Function in a Novel Model of DMD Cardiomyopathy
by: Jacopo Morroni, et al.
Published: (2022-02-01)

A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa
by: Gabrielle Wheway, et al.
Published: (2019-03-01)

Application of digital micromirror devices (DMD) in biomedical instruments
by: Ziyun Zhuang, et al.
Published: (2020-11-01)

In Silico Analysis of a Highly Mutated Gene in Cancer Provides Insight into Abnormal mRNA Splicing: Splicing Factor 3B Subunit 1<sup><em>K</em>700<em>E</em></sup> Mutant
by: Asmaa Samy, et al.
Published: (2020-04-01)

Assessment of Dynamic Mode Decomposition (DMD) Model for Ionospheric TEC Map Predictions
by: Vlad Landa, et al.
Published: (2023-01-01)

Isolation and Characterization of Primary DMD Pig Muscle Cells as an <i>In Vitro</i> Model for Preclinical Research on Duchenne Muscular Dystrophy
by: Tina Donandt, et al.
Published: (2022-10-01)

The Doublesex/Mab-3 domain transcription factor DMD-10 regulates ASH-dependent behavioral responses
by: Julia Durbeck, et al.
Published: (2021-02-01)

Next-Generation SINE Compound KPT−8602 Ameliorates Dystrophic Pathology in Zebrafish and Mouse Models of DMD
by: Katherine G. English, et al.
Published: (2022-09-01)

Achromatopsia caused by novel missense mutations in the CNGA3 gene
by: Xi-Teng Chen, et al.
Published: (2015-10-01)

Single-atom trapping and transport in DMD-controlled optical tweezers
by: Dustin Stuart, et al.
Published: (2018-01-01)